Incidental Mutation 'IGL00905:Utp11'
ID27213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Utp11
Ensembl Gene ENSMUSG00000028907
Gene NameUTP11 small subunit processome component
SynonymsUtp11l, 2700082D03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #IGL00905
Quality Score
Status
Chromosome4
Chromosomal Location124678160-124693600 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 124683793 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 63 (P63Q)
Ref Sequence ENSEMBL: ENSMUSP00000030738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030738]
Predicted Effect probably damaging
Transcript: ENSMUST00000030738
AA Change: P63Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030738
Gene: ENSMUSG00000028907
AA Change: P63Q

DomainStartEndE-ValueType
Pfam:Utp11 13 253 1.2e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153088
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 101,300,166 E58G probably damaging Het
D130040H23Rik A T 8: 69,300,770 K16I possibly damaging Het
D630003M21Rik T C 2: 158,213,412 T602A possibly damaging Het
Fam161b C T 12: 84,357,685 V74I probably benign Het
Gm13023 A G 4: 143,795,274 T487A probably benign Het
Grk1 A G 8: 13,416,068 E504G probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
L3mbtl3 C T 10: 26,313,846 probably null Het
Map1s A G 8: 70,906,029 probably benign Het
Mprip T C 11: 59,772,168 V982A possibly damaging Het
Olfr1107 A G 2: 87,071,219 I305T probably benign Het
Olfr27 T G 9: 39,145,030 F310C probably damaging Het
Phf1 A T 17: 26,936,594 R378W possibly damaging Het
Ptpn3 A T 4: 57,270,050 D37E possibly damaging Het
Rcbtb1 A G 14: 59,228,305 S366G probably benign Het
Scn5a C A 9: 119,536,501 W360L probably damaging Het
Scrib A G 15: 76,064,990 F398S probably damaging Het
Slc25a47 C A 12: 108,855,388 T141K probably benign Het
Slc9a1 T A 4: 133,370,548 M2K probably benign Het
Tango6 G T 8: 106,742,472 probably null Het
Tmem231 A T 8: 111,918,440 probably benign Het
Tnr G A 1: 159,852,182 R242Q probably benign Het
Usp5 G A 6: 124,815,613 P821S probably damaging Het
Vmn1r6 T A 6: 57,002,804 N128K probably damaging Het
Other mutations in Utp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Utp11 APN 4 124679739 missense possibly damaging 0.84
IGL00850:Utp11 APN 4 124682457 missense probably benign 0.12
IGL03264:Utp11 APN 4 124679728 missense probably damaging 1.00
R0549:Utp11 UTSW 4 124686079 splice site probably benign
R1529:Utp11 UTSW 4 124683239 missense probably benign 0.00
R1617:Utp11 UTSW 4 124686111 missense probably damaging 1.00
R4004:Utp11 UTSW 4 124682437 missense probably damaging 1.00
R4939:Utp11 UTSW 4 124683250 missense possibly damaging 0.85
R5144:Utp11 UTSW 4 124678902 utr 3 prime probably benign
R5929:Utp11 UTSW 4 124682243 missense probably damaging 1.00
Posted On2013-04-17